Hyaline Fibromatosis Syndrome

Preferred Label : Hyaline Fibromatosis Syndrome;

MeSH definition : Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.;

MeSH synonym : hyalinoses, systemic; systemic hyalinoses; systemic hyalinosis; fibromatosis syndrome, hyaline; fibromatosis syndromes, hyaline; hyaline fibromatosis syndromes; syndrome, hyaline fibromatosis; syndromes, hyaline fibromatosis; juvenile hyaline fibromatosis; hyaline fibromatosis, juvenile; juvenile hyaline fibromatoses; fibromatosis juvenile hyaline; puretic syndrome; fibromatosis, juvenile hyaline; hyalinosis, systemic juvenile; fibromatosis hyalinica multiplex juvenilis; hyaline fibromatosis juvenile; juvenile hyalinosis; hyalinoses, juvenile; hyalinosis, juvenile; juvenile hyalinoses; murray syndrome; syndrome, murray; puretic syndromes; syndrome, puretic; syndromes, puretic; hyalinoses, systemic juvenile; juvenile hyalinoses, systemic; juvenile hyalinosis, systemic; systemic juvenile hyalinoses; systemic juvenile hyalinosis; Hyalinosis, Systemic;

CISMeF synonym : hyalinosis, systemic; hyaline fibromatosis syndrome; infantile systemic hyalinosis;

MeSH hyponym : Hyalinoses, Infantile Systemic; Hyalinosis, Infantile Systemic; Infantile Systemic Hyalinoses; Systemic Hyalinoses, Infantile; Systemic Hyalinosis, Infantile;

MeSH annotation : do not confuse entry term INFANTILE SYSTEMIC HYALINOSIS with HYALINE MEMBRANE DISEASE;

Wikipedia link : https://en.wikipedia.org/wiki/Juvenile hyaline fibromatosis;

Details

Origin ID

D057770;

UMLS CUI

C2745948;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Hyaline fibromatosis syndrome [ORDO Disease]
- Hyaline fibromatosis syndrome [OMIM Phenotype]
- Infantile systemic hyalinosis [ICD-11 More detail]
- Infantile systemic hyalinosis [ORDO Disease]
- Juvenile Hyaline Fibromatosis [NCIt concept]
- Juvenile hyaline fibromatosis [ICD-11 More detail]
- Juvenile hyaline fibromatosis [ORDO Disease]
- Juvenile hyaline fibromatosis (disorder) [SNOMED CT concept]
- hyaline fibromatosis syndrome [DO Concept]
DO Cross reference
- hyaline fibromatosis syndrome [DO Concept]
ORDO relation(s)
- Juvenile hyaline fibromatosis [ORDO Disease]
Record concept(s)
- Hyaline Fibromatosis Syndrome [MeSH concept]
- Infantile Systemic Hyalinosis [MeSH concept]
See also
- hyaline membrane disease [MeSH Descriptor]
- lipoid proteinosis of urbach and wiethe [MeSH Descriptor]
See also (suggested by CISMeF)
- hyalin [MeSH Descriptor]
See also inter- (CISMeF)
- juvenile hyaline fibromatosis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyaline fibromatosis syndrome [OMIM Phenotype]
- Infantile systemic hyalinosis [ORDO Disease]
- Infantile systemic hyalinosis (disorder) [SNOMED CT concept]
- Juvenile Hyaline Fibromatosis [NCIt concept]
- Juvenile hyaline fibromatosis (disorder) [SNOMED CT concept]
- hyaline fibromatosis syndrome [DO Concept]
- infantile systemic hyalinosis [Disease (Nov.)]
- juvenile hyaline fibromatosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- Infantile systemic hyalinosis (disorder) [SNOMED CT concept]
- infantile systemic hyalinosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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